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Progressive Myoclonic Epilepsies

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Handbook of the Cerebellum and Cerebellar Disorders

Abstract

Progressive myoclonic epilepsies (PME) are a group of rare disorders characterized by the occurrence of seizures, myoclonus, and progressive neurological dysfunction usually beginning in childhood and adolescence. This chapter discusses epidemiology, genetics, pathology, clinical manifestations, EEG characteristics, methods of diagnosis, and treatment of the most common causes of PME, including Unverricht–Lundborg disease (ULD, Baltic myoclonus), myoclonic epilepsy with ragged red fibers (MERRF), neuronal ceroid lipofuscinosis (NCL), dentatorubropallidoluysian atrophy (DRPLA), Gaucher disease (GD), Lafora disease (LD), and sialidosis. The aim of this chapter is to provide the clinicians with relevant clinical information in order to recognize these rare diseases and facilitate their treatments.

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  1. Department of Neurology; Reference Center for the Treatment of Refractory Epilepsy, Université Libre de Bruxelles- Hôpital Erasme, 808 Route de Lennik, 1070, Brussels, Belgium

    Dr. Benjamin Legros M.D.

  2. Children Hospital of Orange County, Orange County, CA, USA

    Dr. Mary L. Zupanc (Director of the Comprehensive Epilepsy Program and Chief of the Division of Child Neurology)

Authors
  1. Dr. Benjamin Legros M.D.
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  2. Dr. Mary L. Zupanc
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Correspondence to Benjamin Legros M.D. .

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Editors and Affiliations

  1. Unité d'Etude du Mouvement (UEM), FNRS, Neurologie ULB Erasme, Bruxelles, Belgium

    Mario Manto

  2. Ataxia Unit, Cognitive and Behavioral Neurology Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Jeremy D. Schmahmann

  3. Neuroscience Institute of the Cavalieri-Ottolenghi Foundation (NICO), University of Turin, Orbassano, Turin, Italy

    Ferdinando Rossi

  4. Molecular and Integrative Neuroscience Department (MIND), The Scripps Research Institute, California, CA, USA

    Donna L. Gruol

  5. Department of Integrative Physiolgy, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan

    Noriyuki Koibuchi

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© 2013 Springer Science+Business Media Dordrecht

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Legros, B., Zupanc, M.L. (2013). Progressive Myoclonic Epilepsies. In: Manto, M., Schmahmann, J.D., Rossi, F., Gruol, D.L., Koibuchi, N. (eds) Handbook of the Cerebellum and Cerebellar Disorders. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-1333-8_89

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